{"orpha":520,"name":"Acute promyelocytic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML M3","AML with t(15;17)(q22;q12);(PML/RARalpha) and variants","APML","Acute myeloblastic leukemia 3","Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants"],"definition":"An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-520/","orphanet_url":"https://www.orpha.net/en/disease/detail/520","names":{"fr":{"name":"Leucémie aiguë promyélocytaire","synonyms":["AML M3","Leucémie aiguë myéloblastique 3","Leucémie aiguë myéloïde avec t(15;17)(q22;q12);(PML/RARalpha) et variants"],"definition":"Forme agressive de leucémie myéloïde aiguë (LMA), caractérisée par un arrêt de la différenciation leucocytaire au stade de promyélocyte, due à une translocation chromosomique spécifique t(15;17) dans les cellules myéloïdes. La maladie se manifeste par une tendance aux ecchymoses, une diathèse hémorragique et une fatigue."},"de":{"name":"Promyelozytenleukämie, akute","synonyms":["AML mit t(15;17)(q22;q12);(PML/RARalpha) und Varianten","AML-M3","APML","Akute myeloische Leukämie mit t(15;17)(q22;q12);(PML/RARalpha) und Varianten","Leukämie, akute myeloische, Typ 3"],"definition":"Eine aggressive Form der akuten myeloischen Leukämie (AML), die durch einen Stillstand der Leukozytendifferenzierung im Promyelozytenstadium aufgrund einer spezifischen chromosomalen Translokation t(15;17) in myeloischen Zellen gekennzeichnet ist und sich mit leichten Blutergüssen, hämorrhagischer Diathese und Müdigkeit manifestiert."},"es":{"name":"Leucemia promielocítica aguda","synonyms":["LMA M3","LMA con t(15;17)(q22;q12);(PML/RARalpha) y variantes","LPA","Leucemia aguda mieloide con t(15;17)(q22;q12);(PML/RARalpha) y variantes","Leucemia mieloblástica aguda tipo 3","Leucemia mieloide aguda con t(15;17)(q22;q12);(PML/RARalpha) y variantes"],"definition":"Es una forma agresiva de leucemia mieloide aguda (LMA) caracterizada por un parada de la diferenciación de los leucocitos en el estadio promielocítico debido a una translocación cromosómica específica t (15; 17) en las células mieloides. Se manifiesta como propensión a hematomas, diátesis hemorrágica y fatiga."},"it":{"name":"Leucemia promielocitica acuta","synonyms":["AML con t(15;17)(q22;q12);(PML/RARalpha) e varianti","Leucemia mieloblastica acuta, tipo 3","Leucemia mieloide acuta con t(15;17) (q22;q12); (PML/RARalpha) e varianti","Leucemia mieloide acuta con t(15;17)(q22;q12); (PML/RARalpha) e varianti"],"definition":"Si tratta di una forma aggressiva di leucemia mieloide acuta (AML), caratterizzata dall'arresto della differenziazione dei leucociti allo stadio promielocitario, a causa di una traslocazione cromosomica specifica t(15;17) nei mielociti. La malattia esordisce con una tendenza alle ecchimosi, diatesi emorragica ed affaticamento."},"nl":{"name":"Acute promyelocytische leukemie","synonyms":["AML M3","AML met t(15;17)(q22;q12);(PML/RARalfa) en varianten","APML","Acute myeloblastische leukemie 3","Acute myeloïde leukemie met t(15;17)(q22;q12);(PML/RARalfa) en varianten"],"definition":"Een agressieve vorm van acute myeloïde leukemie (AML) die gekarakteriseerd wordt door een arrest van de differentiatie van leukocyten in de promyelocytische fase ten gevolge van een specifieke chromosomale translocatie t(15;17) in myeloïde cellen, en die zich manifesteert met vatbaarheid voor kneuzing, hemorragische diathese en vermoeidheid."},"pt":{"name":"Leucemia promielocítica aguda","synonyms":["Leucemia mieloblástica aguda tipo 3"]},"pl":{"name":"Ostra białaczka promielocytowa","synonyms":["APML","AML M3","Ostra białaczka mieloblastyczna 3","AML z t(15;17)(q22;q12);(PML/RARalpha) i wariantami","Ostra białaczka mielocytarna z t(15;17)(q22;q12);(PML/RARalpha) i wariantami"]},"cs":{"name":"Akutní promyelocytární leukémie","synonyms":["AML M3","AML s t(15;17)(q22;q12);(PML/RARalpha) a varianty","Akutní myeloblastická leukémie, typ 3","Akutní myeloidní leukémie s t(15;17)(q22;q12);(PML/RARalpha) a varianty"]},"uk":{"name":"Гострий промієлоцитарний лейкоз","synonyms":["Гострий мієлобластний лейкоз 3","Гострий мієлоїдний лейкоз з t(15;17)(q22;q12);(PML/RARalpha) та варіанти","AML M3","AML з t(15;17)(q22;q12);(PML/RARalpha) та варіантами","APML"],"definition":"An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue."},"zh":{"name":"急性早幼粒细胞白血病","synonyms":["急性早幼粒细胞白血病伴t(15;17)(q22;q12)PML/RARalpha与变异"]},"tr":{"name":"Akut promiyelositik lösemi","synonyms":["APML","AML M3","Akut miyeloblastik lösemi 3","t(15; 17) (q22; q12); (PML / RARalpha) ve varyantları ile seyreden AML","t(15; 17) (q22; q12); (PML / RARalpha) ve varyantları ile seyreden akut miyeloid lösemi"]}},"xrefs":[{"source":"OMIM","code":"612376","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C92.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH1A50","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1651592210"},{"source":"MONDO","code":"0012883","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015473","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023487","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"538","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10001019","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98277,"name":"Acute myeloid leukemia with recurrent genetic anomaly","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"BCOR","name":"BCL6 corepressor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"20807888[PMID]_25790901[PMID]","hgnc":"20893","ensembl":"ENSG00000183337","omim":"300485","loci":["Xp11.4"]},{"symbol":"FIP1L1","name":"factor interacting with PAPOLA and CPSF1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"18603554[PMID]","hgnc":"19124","ensembl":"ENSG00000145216","omim":"607686","loci":["4q12"]},{"symbol":"IRF2BP2","name":"interferon regulatory factor 2 binding protein 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"25583766[PMID]_27193600[PMID]","hgnc":"21729","ensembl":"ENSG00000168264","omim":"615332","loci":["1q42.3"]},{"symbol":"NABP1","name":"nucleic acid binding protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23287866[PMID]","hgnc":"26232","ensembl":"ENSG00000173559","omim":"612103","loci":["2q32.3"]},{"symbol":"NPM1","name":"nucleophosmin 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"7910","ensembl":"ENSG00000181163","omim":"164040","loci":["5q35.1"]},{"symbol":"NUMA1","name":"nuclear mitotic apparatus protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"9288109[PMID]","hgnc":"8059","ensembl":"ENSG00000137497","omim":"164009","loci":["11q13.4"]},{"symbol":"PML","name":"PML nuclear body scaffold","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"10942371[PMID]","hgnc":"9113","ensembl":"ENSG00000140464","omim":"102578","loci":["15q24.1"]},{"symbol":"PRKAR1A","name":"protein kinase cAMP-dependent type I regulatory subunit alpha","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"17712046[PMID]","hgnc":"9388","ensembl":"ENSG00000108946","omim":"188830","loci":["17q24.2"]},{"symbol":"RARA","name":"retinoic acid receptor alpha","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"10942371[PMID]","hgnc":"9864","ensembl":"ENSG00000131759","omim":"180240","loci":["17q21.2"]},{"symbol":"STAT3","name":"signal transducer and activator of transcription 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"29237593[PMID]","hgnc":"11364","ensembl":"ENSG00000168610","omim":"102582","loci":["17q21.2"]},{"symbol":"STAT5B","name":"signal transducer and activator of transcription 5B","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"18221386[PMID]","hgnc":"11367","ensembl":"ENSG00000173757","omim":"604260","loci":["17q21.2"]},{"symbol":"TBL1XR1","name":"TBL1X/Y related 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24782508[PMID]","hgnc":"29529","ensembl":"ENSG00000177565","omim":"608628","loci":["3q26.32"]},{"symbol":"ZBTB16","name":"zinc finger and BTB domain containing 16","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"8387545[PMID]_10942371[PMID]","hgnc":"12930","ensembl":"ENSG00000109906","omim":"176797","loci":["11q23.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"United States","status":"Validated","source":"22707337[PMID]_21653939[PMID]_ ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"France","status":"Validated","source":"OTHERitut National du Cancer 2013[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-02","source":"30666067[PMID]_30715157[PMID]_30854206[PMID]_26414475[PMID]_28735889[PMID]","terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031020","label":"Bone marrow hypercellularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031035","label":"Chronic infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005521","label":"Disseminated intravascular coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030955","label":"Alcoholism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025420","label":"Diffuse alveolar hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030140","label":"Oral cavity bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031245","label":"Productive cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010280","label":"Stomatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100608","label":"Metrorrhagia","frequency":"Very rare (<4-1%)","criteria":null}]}}